Ocular manifestations of mitochondrial disease

African Vision and Eye Health

Field Value
Title Ocular manifestations of mitochondrial disease
Creator Mathebula, S. D.
Subject — dominant optic atrophy; genes; Leber hereditary optic neuropathy; mitochondrial disease; DNA mutation; neuro-ophthalmology
Description Mitochondrial disease caused by mutations in mitochondrial DNA is recognized as one of the most common causes of inherited neurological disease. Neuro-ophthalmic manifestations are a common feature of mitochondrial disease.  Optic atrophy causing central visual loss is the dominant feature of mitochondrial DNA diseases. Nystagmus is also encountered in mitochondrial disease.Although optometrists are not involved with the management of mitochondrial disease, they are likely to see more patients with this disease. Oph-thalmic examination forms part of the clinical assessment of mitochondrial disease. Mitochondrial disease should be suspected in any patient with unexplained optic neuropathy, ophthalmoplegia, pigmentary retinopathy or retrochiasmal visual loss. Despite considerable advances in the under-standing of mitochondrial genetics and the patho-genesis of mtDNA diseases, no effective treatment options are currently available for patients withmitochondrial dysfunction. (S Afr Optom 201271(1) 46-50)
Publisher AOSIS
Date 2012-12-09
Type info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion — —
Format application/pdf
Identifier 10.4102/aveh.v71i1.63
Source African Vision and Eye Health; South African Optometrist: Vol 71, No 1 (2012); 46-56 2410-1516 2413-3183
Language eng
Relation https://avehjournal.org/index.php/aveh/article/view/63/32
Coverage — — —
Rights Copyright (c) 2012 S. D. Mathebula https://creativecommons.org/licenses/by/4.0